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Genetics of Erythropoiesis (Red Blood Cell Creation)

Written by Joe Cohen, BS | Last updated:

A mutation in the JAK2 gene is the major cause of Polycythemia Vera or an increased number of red blood cells [1].


GATA1 (GATA binding protein 1 or globin transcription factor 1) is essential for normal red blood cell production (erythropoiesis) [2, 3, 4].

The GATA1 regulates the growth, division, and survival of immature red blood cells and platelets [5, 6, 7].

Mutations in GATA1 cause anemias and thrombocytopenia in human patients [8, 9].

Mutations in this gene are present in almost all cases of acute leukemia associated with Down’s syndrome.


ZFPM1 gene (Zinc finger protein) is also known as FOG1 (friend of GATA1).

ZFPM1 plays an essential role in red blood cell production. Interaction of ZFPM1 with GATA1 is essential for the function of GATA1 in red blood cell growth [10].

STIL (SCL/TAL1 interrupting locus)

STIL plays an essential role in red blood cell production [11, 12, 13].

EKLF1 (Erythroid Kruppel-like Factor 1)

EKLF1 is a gene that is necessary for the proper maturation of red blood cells [14].

EKLF participates in the production of adult globin chains [15].

Mutations in this gene are associated with anemia, β-thalassemia, hereditary persistence of fetal hemoglobin (HPFH), and rare In (Lu) blood group [16, 17, 18, 19, 20].


Erythropoietin (EPO) and its receptor (EPOR) stimulate red blood cell growth and cell division in the bone marrow and the initiation of hemoglobin production [21, 22, 23, 24].

The T allele of SNP rs1617640 in the promoter of the EPO gene is associated with diabetic eye and kidney complications [25].


EPOR (Erythropoietin receptor gene) promotes the proliferation of immature red blood cells and survival [26].

Defects in the EPOR may produce erythroleukemia and familial erythrocytosis (an inherited condition characterized by an increased number of red blood cells and an elevated risk of abnormal blood clots) [27, 28].

About the Author

Joe Cohen, BS

Joe Cohen, BS

Joe Cohen won the genetic lottery of bad genes. As a kid, he suffered from inflammation, brain fog, fatigue, digestive problems, anxiety, depression, and other issues that were poorly understood in both conventional and alternative medicine. Frustrated by the lack of good information and tools, Joe decided to embark on a journey of self-experimentation and self-learning to improve his health--something that has since become known as “biohacking”. With thousands of experiments and pubmed articles under his belt, Joe founded SelfHacked, the resource that was missing when he needed it. SelfHacked now gets millions of monthly readers. Joe is a thriving entrepreneur, author and speaker. He is the CEO of SelfHacked, SelfDecode and LabTestAnalyzer. His mission is to help people gain access to the most up-to-date, unbiased, and science-based ways to optimize their health.
Joe has been studying health sciences for 17 years and has read over 30,000 PubMed articles. He's given consultations to over 1000 people who have sought his health advice. After completing the pre-med requirements at university, he founded SelfHacked because he wanted to make a big impact in improving global health. He's written hundreds of science posts, multiple books on improving health, and speaks at various health conferences. He's keen on building a brain-trust of top scientists who will improve the level of accuracy of health content on the web. He's also founded SelfDecode and LabTestAnalyzer, popular genetic and lab software tools to improve health.


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